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一名儿童出现的多发性静脉球瘤畸形:8年随访

Multiple glomuvenous malformations presenting in a child: follow-up over a period of 8 years.

作者信息

Jabir Shehab, Frew Quentin, Petkar Mahir, Dziewulski Peter

机构信息

St Andrews Centre for Plastic Surgery and Burns, Broomfield Hospital, Chelmsford, Essex, UK.

出版信息

BMJ Case Rep. 2013 Jul 13;2013:bcr2013200114. doi: 10.1136/bcr-2013-200114.

DOI:10.1136/bcr-2013-200114
PMID:23853196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3736668/
Abstract

Multiple glomuvenous malformations (GVMs) are a rare condition which usually present in children with only a handful of cases reported in the literature. It is usually congenital and has an autosomal dominant inheritance pattern. They may be distributed throughout the body in either a localised, segmental or disseminated pattern. Pain, which is a characteristic feature of glomus tumours, is less often associated with GVMs. In addition, unlike glomus tumours which most commonly occur over acral skin surfaces, GVMs may occur throughout the body. A number of treatment options are available including surgical excision, laser treatments and sclerotherapy. We present the case of a 14-year-old boy with multiple GVMs which were treated with surgical excision and followed him up over a period of 8 years.

摘要

多发性静脉球瘤(GVMs)是一种罕见病症,通常见于儿童,文献中仅有少数病例报道。它通常是先天性的,具有常染色体显性遗传模式。它们可能以局部、节段性或播散性模式分布于全身。疼痛是血管球瘤的一个特征性表现,但在GVMs中较少出现。此外,与最常见于手足皮肤表面的血管球瘤不同,GVMs可发生于全身各处。有多种治疗选择,包括手术切除、激光治疗和硬化疗法。我们报告了一例14岁患有多发性GVMs的男孩,对其进行了手术切除治疗,并随访了8年。

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本文引用的文献

1
Multiple disseminated glomuvenous malformations: do we know enough?
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Malignant eccrine spiradenoma (spiradenocarcinoma): a clinicopathologic study of 12 cases.恶性小汗腺螺旋腺瘤(螺旋腺癌):12例临床病理研究
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Multiple familial cutaneous glomangioma: a pedigree of 4 generations and critical analysis of histologic and genetic differences of glomus tumors.多发性家族性皮肤血管球瘤:一个四代家系及血管球瘤组织学和遗传学差异的批判性分析
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A gene for inherited cutaneous venous anomalies ("glomangiomas") localizes to chromosome 1p21-22.一种遗传性皮肤静脉畸形(“血管球瘤”)的基因定位于1号染色体的1p21 - 22区域。
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